ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827681476
Gene: JUP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000645199
ClinVar Variation:
201826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339706.1:p.His568Tyr
CA308541
NM_001352777.2:c.1702C>T